Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni E F
Department of Medical Imaging, Hôpital Nord, CHU Marseille, France.
Ultrasound Obstet Gynecol. 2006 Dec;28(7):911-7. doi: 10.1002/uog.3856.
To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys.
This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later. We analyzed retrospectively the prenatal ultrasound findings of those fetuses which were found sonographically to have renal cysts.
Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal dominant polycystic kidney disease (ADPKD), 31 with autosomal recessive polycystic kidney disease (ARPKD), 11 with Bardet-Biedl syndrome, nine with Meckel-Gruber syndrome, six with Ivemark II syndrome, one with Jarcho-Levin syndrome, one with Beemer syndrome and one with Meckel-like syndrome. One third of the fetuses (30/93) had renal cysts. Cystic characteristics (size, location, number) were not very useful for diagnosis; more useful was diagnosis of an associated malformation. Three (11%) of the fetuses with ADPKD had cysts, as did nine (29%) of those with ARPKD, three (27%) of those with Bardet-Biedl syndrome, all (100%) of those with Meckel-Gruber syndrome, three (50%) of those with Ivemark II syndrome, and each of the three cases with other syndromes (Jarcho-Levin, Beemer and Meckel-like syndromes). None of the cases with trisomy 13 had cysts. There were no associated malformations in the 12 cases with renal cysts and polycystic kidney disease; the other 18 cases with renal cysts were associated with malformations that were often specific, such as polydactyly in Bardet-Biedl and Beemer syndromes, occipital defect and Dandy-Walker malformation in Meckel-Gruber or Meckel-Gruber-like syndromes, and thoracic and/or vertebral abnormalities in Jarcho-Levin and Beemer syndromes.
Renal cysts associated with hyperechogenic kidneys are not rare. The clue to diagnosis is the demonstration of an associated malformation. If no malformation is found, the main diagnosis remains polycystic kidney disease, i.e. ARPKD or ADPKD.
确定与高回声肾相关的肾囊肿鉴别诊断中的重要因素。
这是一项回顾性多中心研究。我们确定了1990年至2002年间出现高回声肾且后来确诊为肾病的93例胎儿。我们回顾性分析了那些超声检查发现有肾囊肿的胎儿的产前超声检查结果。
在93例出现高回声肾且后来诊断为肾病的胎儿中，28例患有常染色体显性多囊肾病（ADPKD），31例患有常染色体隐性多囊肾病（ARPKD），11例患有巴德-比德尔综合征，9例患有梅克尔-格鲁伯综合征，6例患有伊韦马克II综合征，1例患有贾尔乔-莱文综合征，1例患有贝默综合征，1例患有梅克尔样综合征。三分之一的胎儿（30/93）有肾囊肿。囊肿特征（大小、位置、数量）对诊断帮助不大；更有用的是诊断相关畸形。ADPKD胎儿中有3例（11%）有囊肿，ARPKD胎儿中有9例（29%）有囊肿，巴德-比德尔综合征胎儿中有3例（27%）有囊肿，梅克尔-格鲁伯综合征胎儿全部（100%）有囊肿，伊韦马克II综合征胎儿中有3例（50%）有囊肿，以及其他三种综合征（贾尔乔-莱文、贝默和梅克尔样综合征）的各3例中有囊肿。13三体综合征的病例均无囊肿。12例肾囊肿和多囊肾病病例无相关畸形；其他18例肾囊肿病例与通常具有特异性的畸形相关，如巴德-比德尔和贝默综合征中的多指畸形、梅克尔-格鲁伯或梅克尔-格鲁伯样综合征中的枕部缺损和丹迪-沃克畸形，以及贾尔乔-莱文和贝默综合征中的胸部和/或脊柱异常。
与高回声肾相关的肾囊肿并不罕见。诊断的线索是相关畸形的显示。如果未发现畸形，主要诊断仍为多囊肾病，即ARPKD或ADPKD。
